Incidental Mutation 'R1224:Zdhhc7'
| ID |
152838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zdhhc7
|
| Ensembl Gene |
ENSMUSG00000031823 |
| Gene Name |
zinc finger, DHHC domain containing 7 |
| Synonyms |
|
| MMRRC Submission |
039293-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R1224 (G1)
|
| Quality Score |
144 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
120807834-120828211 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120809311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 299
(T299S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034280]
[ENSMUST00000127664]
|
| AlphaFold |
Q91WU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034280
AA Change: T299S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034280
Gene: ENSMUSG00000031823
AA Change: T299S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
31 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
129 |
258 |
9.8e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124044
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150444
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,931,408 (GRCm39) |
E1248D |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Aldh16a1 |
T |
C |
7: 44,791,471 (GRCm39) |
|
probably null |
Het |
| Aldh9a1 |
T |
A |
1: 167,180,227 (GRCm39) |
I107N |
probably damaging |
Het |
| Atp6ap1l |
G |
A |
13: 91,034,675 (GRCm39) |
Q236* |
probably null |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,744,706 (GRCm39) |
I344K |
possibly damaging |
Het |
| Ces3a |
A |
T |
8: 105,778,141 (GRCm39) |
D204V |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,434,878 (GRCm39) |
S346G |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,207,869 (GRCm39) |
C207S |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,710,548 (GRCm39) |
D1190G |
possibly damaging |
Het |
| Gimap8 |
G |
A |
6: 48,627,629 (GRCm39) |
S201N |
probably benign |
Het |
| Gm10153 |
A |
G |
7: 141,744,072 (GRCm39) |
S19P |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
| Kcng3 |
A |
G |
17: 83,938,824 (GRCm39) |
L75P |
probably damaging |
Het |
| Krt31 |
C |
T |
11: 99,940,690 (GRCm39) |
|
probably null |
Het |
| Ly6a |
A |
G |
15: 74,868,327 (GRCm39) |
V54A |
possibly damaging |
Het |
| Map3k7cl |
T |
A |
16: 87,352,891 (GRCm39) |
D21E |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,873,543 (GRCm39) |
L230P |
probably damaging |
Het |
| Rhog |
C |
A |
7: 101,888,959 (GRCm39) |
V165F |
possibly damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,844 (GRCm39) |
V313A |
probably benign |
Het |
| Sox14 |
G |
C |
9: 99,757,168 (GRCm39) |
H190Q |
probably damaging |
Het |
| Sval2 |
G |
A |
6: 41,841,188 (GRCm39) |
D103N |
probably benign |
Het |
| Tm9sf3 |
A |
T |
19: 41,211,634 (GRCm39) |
V403D |
probably damaging |
Het |
| Tmem269 |
T |
C |
4: 119,074,323 (GRCm39) |
K18R |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,511,139 (GRCm39) |
F49S |
probably damaging |
Het |
| Zfp52 |
T |
C |
17: 21,775,324 (GRCm39) |
V6A |
possibly damaging |
Het |
|
| Other mutations in Zdhhc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01757:Zdhhc7
|
APN |
8 |
120,814,662 (GRCm39) |
missense |
probably benign |
|
|
IGL01988:Zdhhc7
|
APN |
8 |
120,809,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03407:Zdhhc7
|
APN |
8 |
120,812,131 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0362:Zdhhc7
|
UTSW |
8 |
120,813,386 (GRCm39) |
missense |
probably null |
0.32 |
|
R0588:Zdhhc7
|
UTSW |
8 |
120,810,106 (GRCm39) |
intron |
probably benign |
|
|
R0629:Zdhhc7
|
UTSW |
8 |
120,814,785 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1317:Zdhhc7
|
UTSW |
8 |
120,811,639 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1796:Zdhhc7
|
UTSW |
8 |
120,812,157 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5891:Zdhhc7
|
UTSW |
8 |
120,811,639 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6495:Zdhhc7
|
UTSW |
8 |
120,813,395 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6711:Zdhhc7
|
UTSW |
8 |
120,810,066 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6833:Zdhhc7
|
UTSW |
8 |
120,811,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Zdhhc7
|
UTSW |
8 |
120,812,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7743:Zdhhc7
|
UTSW |
8 |
120,813,467 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9368:Zdhhc7
|
UTSW |
8 |
120,814,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9401:Zdhhc7
|
UTSW |
8 |
120,813,425 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATGACTGAGAAGCAACTCCACC -3'
(R):5'- AGGCTGACTGTTTGCAGCACAC -3'
Sequencing Primer
(F):5'- TTCTCCTGGCAGTACACAAGAG -3'
(R):5'- ACAGGCTGACTGTGGATCTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation